附註:Includes bibliographical references and index
Approach of diagnosis to metabolic diseeases / E. Gilbert-Barness and P.M. Farrell -- Prenatal diagnosis and newborn screening / L.P. Shulman and P.M. Farrell -- Disorders of amino acid metabolism / C. Ficicioglu -- Disorders of branched chain amino acid metabolism / I. Manoli and C.P. Venditti -- Defects of the urea cycle / U. Lichter-Konecki -- Fatty acid -oxidation defects / C.O. Harding -- Mitochondrial myopathies and disorders / L.A. Barness and K. Wong -- Glycogen storage diseases / M.A. Chen and D.A. Weinstein -- Mucopolysaccharidoses / J. Spranger -- Oligosaccharidoses and allied disorders / J. Spranger -- Disorders of sterol biosynthesis / L.V. Furtado, R.I. Kelley and J.M. Opitz -- Lysosomal storage diseases / C.R. Ferreira and W.A. Gahl -- Disorders if nucleotide metabolism / W.L. Nyham and T. Friedmann -- Disorders of metal metabolism / C.R. Ferreira and W.A. Gahl -- Neuronal ceroid-lipofuscinoses / D. Rakheja and M.J. Bennett -- Cystic fibrosis / B. Schnapf and P.M. Farrell -- The porphyrias / E.W. Gou, J.D. Phillips and K.E. Anderson -- Inherited intrahepatic chloestatic disorders and disorders of bilirubin metabolism / P. Russo -- Genetic and metabolic disorders of the endocrine system / A.W. Root -- Metablic cardiomyopathies / H.L. Bartlett and J. Carter Ralphe -- Molecular disorders of red blood cells, platelets, and coagualation system / J.L.R. Mayer and A.W. Root -- Genetic disorders of the renal tubule / A.W. Root -- Genetic disorders of calcium, phosphorus, and bone homeostasis / A.W. Root -- Peroxisome biogenesis disorders / C. Argyriou, M.D. D'Agostino and N. Braverman -- Neuromuscular disorders / K. Wong -- Gene therapy for metabolic diseases / R.J. Chandler and C.P. Venditti
